A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6658



Internal ID9628482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:114420923..114610055hg38UCSC Ensembl
Innerchr4:115342079..115531211hg19UCSC Ensembl
Innerchr4:115561528..115750660hg18UCSC Ensembl
Innerchr4:115699683..115888815hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38189133
hg19189133
hg18189133
hg17189133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757949
Supporting Variants
SamplesNA18608
Known GenesUGT8
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv6658
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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